GNB1L

GNB1L
Identifiers
Aliases	GNB1L , DGCRK3, GY2, WDR14, WDVCF, FKSG1, G protein subunit beta 1 like
External IDs	OMIM: 610778; MGI: 1338057; HomoloGene: 41515; GeneCards: GNB1L; OMA:GNB1L - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	19,854,939 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	18,385,429 bp
RNA expression pattern
	Top expressed in
	gonad; ; stromal cell of endometrium; ; granulocyte; ; mucosa of transverse colon; ; testicle; ; prefrontal cortex; ; right frontal lobe; ; skin of leg; ; skin of abdomen; ; ventricular zone;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; morula; ; blastocyst; ; embryo; ; embryo; ; yolk sac; ; primary oocyte; ; lip;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function ;
Cellular component	cytoplasm ; cytoplasmic side of plasma membrane ;
Biological process	social behavior ; G protein-coupled receptor signaling pathway ; intracellular signal transduction ;
	Sources:Amigo / QuickGO
Orthologs
	54584
	13972
	ENSG00000185838
	ENSMUSG00000000884
	Q9BYB4
	Q9EQ15
	NM_053004
	NM_001081682 ; NM_001285491 ; NM_001285493 ; NM_001285494 ; NM_023120
	NP_443730
	NP_001075151 ; NP_001272420 ; NP_001272422 ; NP_001272423 ; NP_075609
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated November 16, 2024

Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene.^[5]^[6]

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene.^[6]

Related Research Articles

<span class="mw-page-title-main">Chromosome 21</span> Human chromosome

Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 46.7 million base pairs representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome.

<span class="mw-page-title-main">Chromosome 22</span> Human chromosome

Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 2</span> Human chromosome

Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.

<span class="mw-page-title-main">Chromosome 5</span> Human chromosome

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.

Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 8</span> Human chromosome

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 gene.

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 is a protein that in humans is encoded by the GNB2 gene.

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.

Guanine nucleotide-binding protein G(t) subunit alpha-1 is a protein that in humans is encoded by the GNAT1 gene.

Protein HIRA is a protein that in humans is encoded by the HIRA gene. This gene is mapped to 22q11.21, centromeric to COMT.

Guanine nucleotide-binding protein G(T) subunit gamma-T1 is a protein that in humans is encoded by the GNGT1 gene. Either GNGT1 or GNGT2 is the gamma subunit (G_γ) of the G_βγ part of transducin, a heterotrimeric G-protein naturally expressed in vertebrate retina rod and cone cells. GNGT1 only occurs in rod cells, and GNGT2 only occurs in cone cells, with a different alpha (G_α) subunit.

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.

Guanine nucleotide-binding protein subunit beta-4 is a protein that in humans is encoded by the GNB4 gene.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 is a protein that in humans is encoded by the GNG11 gene.

Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 is a protein that in humans is encoded by the GNG5 gene.

tRNA -methyltransferase subunit WDR4 is an enzyme subunit that in humans is encoded by the WDR4 gene.

39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185838 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000884 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Gong L, Liu M, Jen J, Yeh ET (Dec 2000). "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide". Biochim Biophys Acta. 1494 (1–2): 185–8. doi:10.1016/s0167-4781(00)00189-5. PMID 11072084.
1 2 "Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like".

Williams NM, Glaser B, Norton N, et al. (2008). "Strong evidence that GNB1L is associated with schizophrenia". Hum. Mol. Genet. 17 (4): 555–66. doi: 10.1093/hmg/ddm330 . PMID 18003636.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi: 10.1186/gb-2004-5-10-r84 . PMC 545604 . PMID 15461802.
Sarbassov DD, Ali SM, Kim DH, et al. (2004). "Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton". Curr. Biol. 14 (14): 1296–302. Bibcode:2004CBio...14.1296D. doi: 10.1016/j.cub.2004.06.054 . PMID 15268862.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Funke B, Pandita RK, Morrow BE (2001). "Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11". Genomics. 73 (3): 264–71. doi:10.1006/geno.2000.6506. PMID 11350118.
Hirosawa M, Nagase T, Murahashi Y, et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping". DNA Res. 8 (1): 1–9. doi: 10.1093/dnares/8.1.1 . PMID 11258795.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID 10591208.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185838 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000884 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11072084-5] Gong L, Liu M, Jen J, Yeh ET (Dec 2000). "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide". Biochim Biophys Acta. 1494 (1–2): 185–8. doi:10.1016/s0167-4781(00)00189-5. PMID 11072084.

[entrez-6] 1 2 "Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like".

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GNB1L

Related Research Articles

References

Further reading